Almost like fictional literature, Residents of different municipalities of Antioquia have believed for centuries that they are doomed to live a curse.Someone who is capable of taking away all his memories.
They have sunk into oblivion, accustomed to living in towns such as Belmira, Yarumal, Angostura and Ituango, where many people’s memories have been erased. A strange genetic mutation that causes them to develop early Alzheimer’s, one of the most difficult diseases to assimilate.
(You can read: What is Early Alzheimer’s? Learn about the symptoms and causes of this disease).
Doctor Francisco Lopera RestrepoThe clinical neurologist and director of the Antioquia Neuroscience Group, who has devoted his life to studying neurodegenerative diseases, said: On the investigation of the EL TIEMPO paisa mutation.
It all started in the 1980s, according to the expert, Dr. It begins when Lopera and his research group began identifying “families of young-onset hereditary Alzheimer’s in Belmira, Yarumal, Angostura, Ituango and other municipalities in the Antioquia region.”
First consultations Sick people who have memory loss and want a solution.
(You can read about what Alzheimer’s is, its types and which treatments may be effective).
However, when these are evaluated; Researchers realize it’s a hereditary disease. Thus, different families began to participate in the studies.
Dr. According to Lopera, “the paisa mutation is an abnormality in the presenilin 1 gene on chromosome 14 that causes autosomal dominant Alzheimer’s disease.”
The origin of this phenomenon is unknown. Again, Research shows that the mutation reached the Antioquia region from Europe 18 generations ago, approximately 350 years ago.
Dr. To know who is a carrier of the paisa mutation, according to Francisco Lopera, The first thing is to examine both sick and healthy people in the family.
“A blood sample is taken from everyone, DNA is extracted, and with DNA you can understand whether the person is a mutation carrier or not,” Lopera said.
To draw blood, researchers go to homes or patients go to the facilities of the University of Antioquia Neuroscience Group in Medellín.
Until now, “25 multigenerational relatives with 6,000 heirs identified, 1,200 of whom are carriers of the paisa mutation”Dr. According to Lopera.
Although occasional Alzheimer’s generally begins after age 65, those affected by the paisa mutation usually develop mild cognitive impairment around age 44, 21 years earlier than the normal average.
(Also: They discover how brain cells die in Alzheimer’s disease).
According to the BBC, “the first symptoms appear very quickly, while the patient has just entered quarantine, followed by reduced mobility and progressive mental deterioration.”
Actually Dr. As Francisco Lopera told EL TIEMPO, The first case in which the condition was discovered was a 36-year-old young man.
Symptoms include memory loss, loss of autonomy and dependency, as well as dementia.
But the outlook is not entirely discouraging because in the middle of the study, The research group found two cases of people who not only had the mutation but also developed a protective gene. This causes the symptoms of this disease to appear after the age of 60.
(You may be interested in: There is good news about the treatment of Alzheimer’s disease).
There is currently no cure; But Francisco, along with researchers from the University of Neurobank Antioquia devoted their lives to understanding this and other neurodegenerative diseases.
In fact, Dr. from the brain bank in question. Francisco Lopera obtained tissues for research. paisa mutation.
510 brains, kept at extreme temperatures of minus 80 degrees Celsius, are preserved in the Neurobank of the University of Antioquia for the study of paisa mutation and other neurodegenerative diseases.
According to the expert, brains affected by the paisa mutation “lose volume and weight at first glance. They may even be half a kilo lighter than normal, and there is a thinning of the brain vortices and widening of the sulci. If examined under a microscope, “a small piece of tissue, you can see protein residues.”
EL TIEMPO visited this place. It is one of the largest and oldest brain banks in Latin America.
Neurobank coordinator Andrés Villegas Lanau explained to this newspaper the process from brain donation to maximum benefit.
Since the person died in the beginning, Getting the brain is a race against time because within minutes they begin to see significant changes that destroy the tissue.
(Continue reading: According to a study, Alzheimer’s patients are more sensitive to music than healthy people).
With this in mind, Andrés Villegas explained: “We manage certain times: Less than 3 to 4 hours after death is the ideal or perfect time to obtain the tissue. Less than 6 hours is a good time. 6 to 12 hours is a bad time.” “It is accepted as a donation for more than 24 hours, unless there is a special situation or a special request.”
When The brain arrives at UdeA Neurobank and goes to the dissection room where it is divided into two.: Some of it is placed in formaldehyde, and the other part is frozen.
In this initial process, the brain is photographed, measured, weighed and identified, followed by storage and fixation.
Once fixed, it returns to the dissection room and is divided into different pieces to be studied.
According to Professor Andrés Villegas, “They take approximately 150 different samples, which is a very high number of samples compared to other banks.”.
It is then transferred to the laboratory for placement in paraffin blocks, and then the histological plates are removed.
Donations “are a really valuable thing in terms of potentially providing tools to find solutions.” to these diseases because to study a disease there are different ways it can be approached: we can use computational models, in vitro models, laboratory animals, but none of these come close to the information that a person’s brain gives us. he was suffering from the disease, the affected organ,” said Dr. Andrés Villegas.
And he added: donations “There have been many successes and not only the paisa mutation but also other neurodegenerative diseases have been investigated.”
“There is a very good awareness of donation in Antioquia and you call us often. However, many people are unaware that there is also research donation in addition to transplant donation,” the expert said.
(You may be interested in: ‘I think we will have very effective treatments for Alzheimer’s within five or ten years’).
According to data provided to EL TIEMPO, On average, the neurobank receives donations every 10 or 15 days.
“It varies throughout the year: there are times when there are no donations for 2 or 2 months, but there are also a lot of donations in a single day,” he said.
The doctor added: “We now have 510 brains donated, which is a huge amount. This has even allowed us to help other banks that are being established in Latin America, such as Peru and Chile.”
GERALDINE BAJONERO VÁSQUEZ
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